Article
Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.
Proceedings of the National Academy of Sciences of the United States of America - 18 May 2010
Levy Daniel, Neuhausen Susan L, Hunt Steven C, Kimura Masayuki, Hwang Shih-Jen, Chen Wei, Bis Joshua C, Fitzpatrick Annette L, Smith Erin, Johnson Andrew D, Gardner Jeffrey P, Srinivasan Sathanur R, Schork Nicholas, Rotter Jerome I, Herbig Utz, Psaty Bruce M, Sastrasinh Malinee, Murray Sarah S, Vasan Ramachandran S, Province Michael A, Glazer Nicole L, Lu Xiaobin, Cao Xiaojian, Kronmal Richard, Mangino Massimo, Soranzo Nicole, Spector Tim D, Berenson Gerald S, Aviv Abraham
Abstract excerpt
Telomeres are engaged in a host of cellular functions, and their length is regulated by multiple genes. Telomere shortening, in the course of somatic cell replication, ultimately leads to replicative senescence. In humans, rare mutations in genes that regulate telomere length have been identified in monogenic diseases such as dyskeratosis congenita and idiopathic pulmonary fibrosis, which are associated with...
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